George Alfred Diaz MD PhD

PubMed

• Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study.
  Drew B Sinha, William L Simpson, Andrew Ting, Louise Bier, Mary Freeman
  Molecular Genetics and Metabolism Reports. 2025-06-01
• 15 citations
  Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial.
  Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S Sloan
  Eclinicalmedicine. 2024-02-01
• 2 citations
  Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic.
  Julia M Martinez, Randi E Zinberg, George A Diaz, Hetanshi Naik
  Telemedicine Journal and e-Health. 2024-01-01

Journal Articles

• Glutamine and Hyperammonemic Crises in Patients with Urea Cycle Disorders  
  Lee B, Diaz GA, Rhead WR, et al, Mol Genet Metab, 1/1/2016
• Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project  
  Linderman MD, Sanderson SC, Sukiel SA, et al, Eur J Hum Genet, 1/1/2016
• Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate  
  Hook D, Diaz GA, Lee B, et al, Mol Genet Metab Rep, 1/1/2016

Books/Book Chapters

• Hyperammonemia 
  Chapter: New Treatment Options for Hyperammonemia 
  Diaz GAEditors: Haberle J.Future Medicine Ltd., London, United Kingdom2014
• Molecular Genetic Pathology 
  Chapter: Biochemical Genetics and Inborn Errors of Metabolism 
  Yu C, Wasserstein MP, Diaz GAEditors: Cheng L and Zhang DY.Springer Science and Business Media, New York, NYEdition 2nd,2014
• Primary Immunodeficiency Diseases 
  Chapter: WHIM Syndrome 
  Diaz GAEditors: Ochs HD et al.Oxford University Press, New York, NYEdition 3rd,2013

Lectures

• Urinary phenylacetylglutamine (U-PAGN) concentration as an adherence biomarker for patients with urea cycle disorders (UCDs) treated with glycerol phenylbutyrate (GPB). 
  1/1/2015
• Metabolic Emergencies 
  Englewood Hospital Medical Center, Englewood, NJ - 1/1/2015
• Genetics Basics and Overview of New Technologies 
  Beth Israel Hospital, New York, NY - 1/1/2015

Other

• Thiamine-Responsive Megaloblastic Anemia Syndrome 
  Oishi K, Diaz GA, GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, Univer
  http://www.genetests.org
  1/1/2010